日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

International Survey on Phenylketonuria Newborn Screening

国际苯丙酮尿症新生儿筛查调查

Trampuž, Domen; Schielen, Peter C J I; Zetterström, Rolf H; Scarpa, Maurizio; Feillet, François; Kožich, Viktor; Tangeraas, Trine; Drole Torkar, Ana; Mlinarič, Matej; Perko, Daša; Remec, Žiga Iztok; Lampret, Barbka Repič; Battelino, Tadej; Isns Study Group On Pku; van Spronsen, Francjan J; Bonham, James R; Grošelj, Urh

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews

评估新生儿筛查中罕见病的全基因组测序:一系列系统评价的证据综合

Freeman, Karoline; Dinnes, Jacqueline; Shinkins, Bethany; Clark, Corinna; Kander, Inès; Scandrett, Katie; Chockalingam, Shivashri; Osman, Aziza; Dracup, Naila; Court, Rachel; Butt, Furqan; Visintin, Cristina; Bonham, James R; Elliman, David; Shortland, Graham; Mackie, Anne; Miedzybrodzka, Zosia; Morgan, Sian M; Boardman, Felicity; Takwoingi, Yemisi; Taylor-Phillips, Sian

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

ISNS 2025 年新生儿血斑筛查通用指南

Webster, Dianne; Gaviglio, Amy; Khan, Aysha Habib; Baker, Mei; Cheillan, David; Chabraoui, Layachi; Abdoh, Ghassan; Cabello, Juan; Giugliani, Roberto; Platis, Dimitris; Østrup, Jan; Howell, R Rodney; Schielen, Peter C J I; Bonham, James R

Newborn Screening-A Worldwide Endeavour to Protect

新生儿筛查——一项旨在保护新生儿的全球性努力

Bonham, James R; Webster, Dianne; Gaviglio, Amy; Khan, Aysha Habib; Howell, R Rodney; Schielen, Peter C J I

Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots.

第七版 ISNS 新生儿血斑中促甲状腺激素、苯丙氨酸和 17α-羟孕酮筛查参考准备

Schielen Peter C J I, Webster Dianne, Loeber J Gerard, Bonham James R

Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers

评估全基因组测序在新生儿筛查中的应用所面临的挑战:一系列系统评价和为政策顾问提供证据的路线图

Freeman, Karoline; Taylor, Dylan; Dinnes, Jacqueline; Clark, Corinna C A; Kander, Inès; Scandrett, Katie; Chockalingam, Shivashri; Dracup, Naila; Court, Rachel; Butt, Furqan; Visintin, Cristina; Bonham, James R; Elliman, David; Shortland, Graham; Mackie, Anne; Miedzybrodzka, Zosia Helena; Morgan, Sian Mair; Boardman, Felicity Kate; Takwoingi, Yemisi; Shinkins, Bethany; Clarke, Aileen; Taylor-Phillips, Sian

Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study

开发基于在线情景的工具以促进囊性纤维化新生儿筛查的研究参与和公众参与:混合方法研究

Moody, Louise; Clarke, Samantha; Compton, Matt; Hughson-Gill, Rachael; Boardman, Felicity; Clark, Corinna; Holder, Pru; Bonham, James R; Chudleigh, Jane

Methodological and Procedural Considerations for Developing Decision Analytic Models to Assess the Health Economic Impacts of Newborn Bloodspot Screening: A Systematic Methodological Review

构建决策分析模型以评估新生儿血斑筛查的健康经济影响的方法论和程序性考量:一项系统方法学综述

Chilcott, Jim; Bessey, Alice; Bonham, James R; Castilla-Rodríguez, Iván; Davis, Sarah; Elliman, David; Hunt, Sara; Hyde, Chris; Lombardo, Silvia; Madan, Jason; Marshall, John; Morris, Joan; Payne, Katherine; Rivero-Arias, Oliver; Shinkins, Bethany; Shortland, Graham; Spillane, Susan; Sutton, Anthea; Taylor-Phillips, Sian; Visintin, Cristina

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England

利益相关者对在英国囊性纤维化筛查方案中引入下一代测序技术的意见

Holder, Pru; Clark, Corinna C; Moody, Louise; Boardman, Felicity K; Cowlard, Jacqui; Allen, Lorna; Walter, Claire; Bonham, James R; Chudleigh, Jane

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK

回顾性分析英国新生儿异戊酸血症筛查阳性结果,并制定策略以提高新生儿筛查的有效性

Carling, Rachel S; Hedgethorne, Katy; Chakrapani, Anupam; Hall, Patricia L; Flynn, Nick; Greenfield, Toby; Moat, Stuart J; Ssali, Joshua; Shakespeare, Lynette; Taj, Nazia; Wu, Teresa H Y; Anderson, Mark; Ghosh, Arunabha; Lemonde, Hugh; Pierre, Germaine; Sharrard, Mark; Sreekantam, Sreevidya; Bonham, James R